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Pyridoxal phosphate-responsive seizures

Orpha number ORPHA79096
Synonym(s) PNPO deficiency
PNPO-related neonatal epileptic encephalopathy
Pyridoxal phosphate-dependent seizures
Pyridoxamine 5'-oxidase deficiency
Pyridoxamine 5'-phosphate oxidase deficiency
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • G40.8
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT
  • 124174008

Summary

Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.


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